RHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients

2017 ◽  
Vol 65 ◽  
pp. 8-15 ◽  
Author(s):  
Marcia R. Dezan ◽  
Ingrid Helena Ribeiro ◽  
Valéria B. Oliveira ◽  
Juliana B. Vieira ◽  
Francisco C. Gomes ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Effective Strategy ◽  
Next Generation ◽  
Cell Disease ◽  
Molecular Variants ◽  
Generation Sequencing

scholarly journals Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing

2021 ◽  
Vol 11 (6) ◽  
pp. 454
Author(s):  
Adekunle Adekile ◽  
Nagihan Akbulut-Jeradi ◽  
Rasha Al Khaldi ◽  
Maria Jinky Fernandez ◽  
Jalaja Sukumaran
Keyword(s):  
Next Generation Sequencing ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Performance ◽  
Next Generation ◽  
Cell Disease ◽  
Two Factors ◽  
The Many ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Hemoglobin genotype and HBB haplotype are established genetic factors that modify the clinical phenotype in sickle cell disease (SCD). Current methods of establishing these two factors are cumbersome and/or prone to errors. The throughput capability of next generation sequencing (NGS) makes it ideal for simultaneous interrogation of the many genes of interest in SCD. This study was designed to confirm the diagnosis in patients with HbSS and Sβ-thalassemia, identify any ß-thal mutations and simultaneously determine the ßS HBB haplotype. Illumina Ampliseq custom DNA panel was used to genotype the DNA samples. Haplotyping was based on the alleles on five haplotype-specific SNPs. The patients studied included 159 HbSS patients and 68 Sβ-thal patients, previously diagnosed using high performance liquid chromatography (HPLC). There was considerable discordance between HPLC and NGS results, giving a false +ve rate of 20.5% with a sensitivity of 79% for the identification of Sβthal. Arab/India haplotype was found in 81.5% of βS chromosomes, while the two most common, of the 13 β-thal mutations detected, were IVS-1 del25 and IVS-II-1 (G>A). NGS is very versatile and can be deployed to simultaneously screen multiple gene loci for modifying polymorphisms, to afford personalized, evidence-based counselling and early intervention.

scholarly journals Editorial for Special Issue “Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies”

2019 ◽  
Vol 5 (4) ◽  
pp. 36
Author(s):  
Colombatti ◽  
Cela ◽  
Elion ◽  
Lobitz
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Geographical Distribution ◽  
Sickle Cell ◽  
Genetic Disorders ◽  
Next Generation ◽  
Special Issue ◽  
Cell Disease ◽  
The World

Sickle cell disease (SCD) is among the most common genetic disorders in the world, affectingover 300,000 newborns annually, with estimates for further increases to over 400,000 annual birthswithin the next generation and with a wider geographical distribution of affected individuals due toglobal migration [1,2]. [...]

Next Generation Sequencing of Renal Medullary Carcinoma Diagnosed Concurrently with Sickle Cell Trait: A Case Report and Literature Review

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S75-S76
Author(s):  
I McCool ◽  
A Dasgupta ◽  
M Jordan
Keyword(s):  
Next Generation Sequencing ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Medullary Carcinoma ◽  
Next Generation ◽  
Effective Treatment Option ◽  
Renal Sinus ◽  
Renal Medullary Carcinoma ◽  
Eosinophilic Cytoplasm ◽  
Generation Sequencing

Abstract Casestudy We present a 33-year-old African American male with 4 months of intermittent right flank pain and gross hematuria with hypermetabolic retroperitoneal lymphadenopathy, persistent right-sided hydronephrosis, perinephric fat stranding and a 5.5-cm hypermetabolic right lower pole mass demonstrated on imaging. Results Core needle biopsies of the mass contained atypical glands composed of epithelioid cells with pleomorphic nuclei, prominent nucleoli, eosinophilic cytoplasm and abundant mitoses infiltrating through desmoplastic stroma. Immunohistochemical staining demonstrated CK7 and PAX8 reactivity of the tumor cells, and negative staining for CK20, WT1, PSA, PLAP and CD10. The patient underwent a radical right nephrectomy; microscopic examination illustrated invasion of the renal sinus, perirenal fat, and lymphovascular space by the neoplastic glands and sickling erythrocytes in the vasculature. Further IHC staining revealed intact mismatch repair proteins (MLH1, PMS2, MSH2, and MSH6) and a loss in expression of INI1 (SMARCB1), leading to the concurrent diagnoses of renal medullary carcinoma and sickle cell trait (confirmed with hemoglobin fractionation). Next generation sequencing of 144 clinically significant genes detected no mutations. Conclusion Renal medullary carcinoma is a rare, aggressive neoplasm that accounts for less than 0.5% of all renal cell carcinomas and presents at an advanced stage. Patients are usually young males who are of African or Mediterranean descent with comorbid sickling disease. Although loss of SMARCB1/INI-1 gene expression is associated with this neoplasm, no effective therapeutic targets have yet been established. Renal medullary carcinomas are usually resistant to chemotherapy and radiotherapy, making the identification of an immunotherapy target paramount. With a median survival of four months from diagnosis, additional genetic studies of these malignancies may identify an effective treatment option for renal medullary carcinoma.

Periodic erythroexchange is an effective strategy for high risk paediatric patients with sickle-cell disease

2007 ◽  
Vol 37 (3) ◽  
pp. 241-247 ◽  
Author(s):  
Nicoletta Masera ◽  
Luisa Tavecchia ◽  
Lorena Pozzi ◽  
Francesca Riva ◽  
Chiara Vimercati ◽  
...  
Keyword(s):  
High Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Effective Strategy ◽  
Cell Disease ◽  
Paediatric Patients
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